Gabriela Oprea

5PUBLICATIONS
112CO-AUTHORS
NeurogeneticsMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMedical mycology
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Publications (5)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Mar 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Dec 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Fatima Rahman, Luisa Marsili, Domizia Pasquetti

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Frequent Collaborators

4 joint publications

Aboulfazl Rad

4 joint publications

Reza Maroofian

3 joint publications

Henry Houlden

2 joint publications

Jonathan Levy